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rs62516147

From SNPedia

Orientationminus
Geno Mag Summary
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation


Make rs62516147(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position102844335
GenePAH
is asnp
is mentioned by
dbSNPrs62516147
ebirs62516147
HLIrs62516147
Exacrs62516147
Varsomers62516147
Maprs62516147
PheGenIrs62516147
hapmaprs62516147
1000 genomesrs62516147
hgdprs62516147
ensemblrs62516147
gopubmedrs62516147
geneviewrs62516147
scholarrs62516147
googlers62516147
pharmgkbrs62516147
gwascentralrs62516147
openSNPrs62516147
23andMers62516147
23andMe allrs62516147
SNP Nexus

SNPshotrs62516147
SNPdbers62516147
MSV3drs62516147
GWAS Ctlgrs62516147
Max Magnitude3
ClinVar
Risk rs62516147(A;A)
Alt rs62516147(A;A)
Reference rs62516147(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene PAH
CLNDBN not provided
Reversed 1
HGVS NC_000012.11:g.103238113C>A; NC_000012.11:g.103238113C>T
CLNSRC
CLNACC RCV000186075.1, RCV000088732.1,